{
    "disease_id": "DOID:0070241",
    "recommended_name": {
        "id": "DOID:0070241",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070241",
        "name": "primary coenzyme Q10 deficiency 4",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13."
    },
    "synonyms": [
        {
            "id": "DOID:0070241",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070241",
            "name": "COQ10D4",
            "description": ""
        },
        {
            "id": "DOID:0070241",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070241",
            "name": "SCAR9",
            "description": ""
        },
        {
            "id": "DOID:0070241",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070241",
            "name": "coenzyme Q10 deficiency, primary, 4",
            "description": ""
        },
        {
            "id": "DOID:0070241",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070241",
            "name": "spinocerebellar ataxia, autosomal recessive 9",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "autosomal recessive ataxia due to ubiquinone deficiency",
            "description": "This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy."
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "ARCA2",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "SCAR9",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "autosomal recessive ataxia due to coenzyme Q10 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "autosomal recessive cerebellar ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "autosomal recessive spinocerebellar ataxia type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "coenzyme Q10 deficiency, primary, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "COQ10D4",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "autosomal recessive spinocerebellar ataxia 9",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "coenzyme Q10 deficiency, primary, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012784",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012784",
            "name": "spinocerebellar ataxia, autosomal recessive 9",
            "description": ""
        },
        {
            "id": "MIM:612016",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612016",
            "name": "Coenzyme Q10 deficiency, primary, 4",
            "description": "Coenzyme Q10 deficiency, primary, 4"
        }
    ]
}